P35P (p.Pro35Pro) variant of KCNE1 (P15382)
P35P (p.Pro35Pro) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P35P (p.Pro35Pro) variant details
- p.Pro35Pro
- rs1237489472
- gnomAD 21-34449530-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0872
- CADD 0.92
- Most common in the East Asian population (allele frequency 0.00022)
- Structural context available
- Trafficking scores for KCNE1 in the absence of KCNQ1: score 1.13
- Literature evidence available